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Results for "PIK3CG"

Variant Events: 11

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
PIK3CG     7-0024-003chr7:
106558092-106558092
GTintergenicDe novo--Yuen2017 G
PIK3CG     AU4060306chr7:
106513348-106513348
CTexonicDe novononsynonymous SNVNM_001282426
NM_001282427
NM_002649
c.C2252T
c.C2252T
c.C2252T
p.S751L
p.S751L
p.S751L
11.978.256E-6Yuen2017 G
PIK3CG     1-0224-004chr7:
106638131-106638131
CTintergenicDe novo--Yuen2017 G
PIK3CG     1-0075-003chr7:
106600132-106600132
CGintergenicDe novo--Yuen2017 G
PIK3CG     1-0665-003chr7:
106585800-106585800
GAintergenicDe novo--Yuen2017 G
PIK3CG     2-1357-003chr7:
106597134-106597134
CCCTCAintergenicDe novo--Yuen2017 G
PIK3CG     AU4215302chr7:
106582048-106582048
CTintergenicDe novo--Yuen2017 G
PIK3CG     12568.p1chr7:
106670462-106670462
ACintergenicDe novo--Turner2016 G
PIK3CG     2-1215-003chr7:
106576448-106576448
AGintergenicDe novo--Yuen2017 G
PIK3CG     5-0105-003chr7:
106658243-106658243
CTintergenicDe novo--Yuen2017 G
PIK3CG     AU4444304chr7:
106583123-106583123
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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